Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B(12)

BACKGROUND: epi-cblC is a recently discovered inherited disorder of intracellular vitamin B(12) metabolism associating hematological, neurological, and cardiometabolic outcomes. It is produced by an epimutation at the promoter common to CCDC163P and MMACHC, which results from an aberrant antisense t...

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Detalles Bibliográficos
Autores principales: Oussalah, Abderrahim, Siblini, Youssef, Hergalant, Sébastien, Chéry, Céline, Rouyer, Pierre, Cavicchi, Catia, Guerrini, Renzo, Morange, Pierre-Emmanuel, Trégouët, David, Pupavac, Mihaela, Watkins, David, Pastinen, Tomi, Chung, Wendy K., Ficicioglu, Can, Feillet, François, Froese, D. Sean, Baumgartner, Matthias R., Benoist, Jean-François, Majewski, Jacek, Morrone, Amelia, Rosenblatt, David S., Guéant, Jean-Louis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9020039/
https://www.ncbi.nlm.nih.gov/pubmed/35440018
http://dx.doi.org/10.1186/s13148-022-01271-1

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